(Q73181286)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

Inoue Y

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Nishio H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Shirakawa T

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Nakanishi K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Nakamura H

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Sumino K

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Nishiyama K

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Iijima K

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Yoshikawa N

9

1 reference

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2 November 2019

publication date

1 November 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Kidney Diseases

2 November 2019

published in

1 reference

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2 November 2019

volume

34

1 reference

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2 November 2019

issue

5

1 reference

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2 November 2019

page(s)

854-862

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

2 November 2019

cites work

1 reference

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7 January 2021

The glomerular basal lamina in hereditary nephritis

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7 January 2021

The clinical spectrum of hereditary nephritis

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7 January 2021

Genetic heterogeneity of Alport syndrome.

1 reference

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7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

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7 January 2021

Molecular genetics of Alport syndrome

1 reference

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7 January 2021

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

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7 January 2021

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

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7 January 2021

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

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7 January 2021

A network model for the organization of type IV collagen molecules in basement membranes

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7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

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7 January 2021

Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

1 reference

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7 January 2021

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

1 reference

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7 January 2021

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network

1 reference

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7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis

1 reference

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7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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7 January 2021

COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome

1 reference

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7 January 2021

Illegitimate (or ectopic) transcription proceeds through the usual promoters

1 reference

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7 January 2021

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

1 reference

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7 January 2021

Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain

1 reference

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7 January 2021

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

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7 January 2021

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://api.crossref.org/works/10.1016%2FS0272-6386%2899%2970042-9

7 January 2021

10.1016/S0272-6386(99)70042-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10561141%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference